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Nearly 120 genes associated with auditory impairment have been identified. Although the disease is clinically and genetically complex, the chances of identifying deafness-causing loci increase when studying consanguineous families.Materials and Methods: Whole-exome sequencing was performed to identify genetic variants underlying sensorineural hearing loss in affected individuals from a family with third-degree consanguineous practices.Results: A homozygous deletion of 250.285 kb was identified in the 16p12.2 region encompassing three genes, &lt;i&gt;METTL9&lt;\/i&gt;, &lt;i&gt;IGSF6&lt;\/i&gt;, and &lt;i&gt;OTOA&lt;\/i&gt;, and a partial deletion of the &lt;i&gt;NPIPB4&lt;\/i&gt; gene co-segregated within the family.Conclusions: This study highlighted the genetic heterogeneity of hearing loss in consanguineous families. Future research should focus on the &lt;i&gt;OTOA&lt;\/i&gt; mutational spectrum in South Indian populations with hearing loss.<\/jats:p>","DOI":"10.7874\/jao.2024.00038","type":"journal-article","created":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T00:46:52Z","timestamp":1737679612000},"page":"31-37","update-policy":"https:\/\/doi.org\/10.7874\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A 250-kb Microdeletion Identified in Chromosome 16 Is Associated With Non-Syndromic Sensorineural Hearing Loss in a South Indian Consanguineous 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